Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607664 | SCV000731410 | uncertain significance | not specified | 2017-02-26 | criteria provided, single submitter | clinical testing | The p.His435Pro variant in PMS2 has not been previously reported in individuals with Lynch syndrome or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.His435Pro variant may not impact the protein, though this information is not predictive enough to rule out patho genicity. In summary, the clinical significance of the p.His435Pro variant is un certain. |